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Case Report A Baby with Nonketotic Hyperglycinaemia 患非酮症性高甘氨酸血症嬰兒一例 HNT Hui, YC Ho, HB Chan, SCF Tam, NLS Tang, PLS Ip Abstract Nonketotic hyperglycinaemia or nonketotic hyperglycinaemic encephalopathy (NKH) is an autosomal recessive inborn error of glycine metabolism. We report a baby with the disease treated with sodium benzoate, dextromethorphan and anticonvulsants who succumbed at 4 months of age. 非酮症性高甘氨酸血症或非酮症性高甘氨酸腦病，是一種常見的染色體隱性遺傳的甘氨酸代謝出生缺陷。我們報道一例嬰兒接受苯甲酸鈉、美沙芬和抗驚厥藥物治療，患兒於出生後 4 個月死亡。 Keyword : Neonatal seizure; Nonketotic hyperglycinaemia 關鍵詞：新生兒癲癇、非酮症性高甘氨酸血症
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